Canonical Allele Identifier: CA486141366

Gene: FANCM

Linked Data

• MyVariant Identifiers: chr14:g.45654485A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45185282A>T , CM000676.2:g.45185282A>T	GRCh38
NC_000014.8:g.45654485A>T , CM000676.1:g.45654485A>T	GRCh37
NC_000014.7:g.44724235A>T	NCBI36
NG_007417.1:g.54350A>T , LRG_502:g.54350A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554809.6:c.2793A>T	ENSP00000450632.2:p.Ser931=
ENST00000555484.2:c.359A>T
ENST00000556250.6:c.4374A>T	ENSP00000452033.2:p.Ser1458=
ENST00000557110.2:c.359A>T
ENST00000696642.1:c.*3392A>T	ENSP00000512775.1:n.*3392A>T
ENST00000696644.1:n.317A>T
ENST00000696645.1:n.471A>T
ENST00000696647.1:c.4581A>T	ENSP00000512778.1:p.Ser1527=
ENST00000696648.1:c.*2606A>T	ENSP00000512779.1:n.*2606A>T
ENST00000696649.1:c.4425A>T	ENSP00000512780.1:p.Ser1475=
ENST00000696650.1:n.4529A>T
ENST00000696659.1:c.2579A>T
ENST00000696663.1:c.3512A>T
ENST00000696664.1:c.3413A>T
ENST00000696665.1:c.359A>T
ENST00000696675.1:c.*337A>T	ENSP00000512799.1:n.*337A>T
ENST00000696683.1:c.3398A>T
ENST00000696684.1:c.3398A>T
ENST00000696685.1:c.3398A>T
ENST00000696686.1:n.1318A>T
ENST00000267430.10:c.4581A>T MANE Select	ENSP00000267430.5:p.Ser1527=
ENST00000267430.9:c.4581A>T	ENSP00000267430.5:p.Ser1527=
ENST00000542564.6:c.4503A>T	ENSP00000442493.2:p.Ser1501=
ENST00000554809.5:c.1378A>T
ENST00000555013.1:n.414A>T
ENST00000556250.5:c.3129A>T	ENSP00000452033.1:p.Ser1043=
NM_001308133.1:c.4503A>T	NP_001295062.1:p.Ser1501=
NM_020937.2:c.4581A>T , LRG_502t1:c.4581A>T	NP_065988.1:p.Ser1527=
NM_020937.3:c.4581A>T	NP_065988.1:p.Ser1527=
XM_011537034.1:c.4596A>T	XP_011535336.1:p.Ser1532=
XM_011537035.1:c.4518A>T	XP_011535337.1:p.Ser1506=
XM_011537036.1:c.4596A>T	XP_011535338.1:p.Ser1532=
XM_011537037.1:c.2610A>T	XP_011535339.1:p.Ser870=
XM_011537034.2:c.4596A>T	XP_011535336.1:p.Ser1532=
XM_011537035.3:c.4518A>T	XP_011535337.1:p.Ser1506=
XM_011537037.3:c.2610A>T	XP_011535339.1:p.Ser870=
XM_017021523.1:c.4596A>T	XP_016877012.1:p.Ser1532=
XM_017021524.2:c.3633A>T	XP_016877013.1:p.Ser1211=
XM_017021525.2:c.3411A>T	XP_016877014.1:p.Ser1137=
XM_017021526.2:c.3411A>T	XP_016877015.1:p.Ser1137=
XM_017021527.1:c.3396A>T	XP_016877016.1:p.Ser1132=
XR_001750470.1:n.4688A>T
XR_001750471.2:n.4673A>T
XR_001750472.1:n.4725A>T
NM_020937.4:c.4581A>T MANE Select	NP_065988.1:p.Ser1527=
NM_001308133.2:c.4503A>T	NP_001295062.1:p.Ser1501=